| Insert |
DNA: genomic Insert lengths(kb): 0.6470000147819519 Gene product: coagulation factor VIIIc, procoagulant component (hemophilia A) [F8C] Alleles: F3, E1, E1, E2, F1, F2, A1, A2 |
| Comments |
Restriction digests of the clone give the following sizes (kb): BamHI--3.5; EcoRI--3.4; PstI--3.0, 0.6; BamHI/SstI--2.8, 0.7. Of 93 obligate carriers for hemophilia A, 35 were informative for the BclI RFLP (exon 17-18). Of 39 obligate carriers NOT detected by p114.12, 19 were informative with p482.6 (intron 22/XbaI). Insert includes exons 17-18 extending slightly 3' to exon 18 but not as far as the polymorphic BclI site. BclI polymorphism maps to intron 18. Enzyme(s) not detecting polymorphism: AhaIII, ApaI, AvaII, BamHI, BamHII, BglI, BstEII, BstXI, EcoRI, EcoRII, EcoRV, HaeIII, HincIII, HindIII, HinfI, HpaI, KpnI, MspI, MciI, NcoI, NsiI, PstI, PvuII, RsaI, Sau3AI, Sau96I, ScaI, ScrFI, SphI, and others. |
| References |
Drayna D, et al. Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. Nature 314: 738-740, 1985. PubMed: 2986011
Gitschier J, et al. Antenatal diagnosis and carrier detection of haemophilia A using factor VIII gene probe. Lancet 1: 1093-1094, 1985. PubMed: 2860301
Wood WI, et al. Expression of active human factor VIII from recombinant DNA clones. Nature 312: 330-337, 1984. PubMed: 6438526
Janco RL, et al. Improved efficacy of carrier assignment in hemophilia A using intragenic probes. Am. J. Hum. Genet. 39: A95, 1986.
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